Table 3 Genotype-phenotype correlation in previously described mutations.
Mutation | R502Q | K504del | E542Q | K600fs | P955fs | R1022P |
|---|---|---|---|---|---|---|
No. of carriers (HCM/healthy) | 23 (17/6) | 6 (5/1) | 18 (16/0) | 3 (3/0) | 19 (15/4) | 6 (6/0) |
No. of non-carriers (HCM/healthy) | 10 (0/10) | 2 (0/2) | 11 (1/10) | 3 (0/3) | 9 (0/9) | 5 (2/3) |
No. of controls | 350 | 450 | 550 | 200 | 400 | 100 |
Mean age at HCM diagnosis (range) | 44 (15-81) | 38 (21-59) | 45 (16-53) | 47 (44-50) | 25 (16-36) | 42 (23-67) |
Mean maximal wall thickness (range) | 22 (10-37) | 19 (9-34) | 23 (17-34) | 22 (19-25) | 23 (8-35) | 18 (14-28) |
No. of sudden deaths/No. of families | 1/7 | 0/3 | 2/12 | 0/2 | 4/4 | 0/3 |
Other events | - | 2 CVA deaths | 1 CVA death | 2 CVA (1 death) | - | - |
References | [18] | [16] |